ClinVar Miner

List of variants reported as likely benign for Chediak-Higashi syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
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HGVS dbSNP
NM_000081.3(LYST):c.*446T>C
NM_000081.3(LYST):c.*685G>T
NM_000081.3(LYST):c.-134G>C
NM_000081.3(LYST):c.10221C>T (p.Tyr3407=)
NM_000081.3(LYST):c.10800+4G>T rs41308172
NM_000081.3(LYST):c.10941-7C>A rs72761794
NM_000081.3(LYST):c.11086G>A (p.Val3696Ile)
NM_000081.3(LYST):c.1384C>T (p.Pro462Ser)
NM_000081.3(LYST):c.1674G>A (p.Leu558=)
NM_000081.3(LYST):c.1686G>C (p.Gln562His) rs77091385
NM_000081.3(LYST):c.2310T>C (p.Pro770=)
NM_000081.3(LYST):c.2313G>A (p.Gln771=)
NM_000081.3(LYST):c.2316C>T (p.Asp772=) rs16832868
NM_000081.3(LYST):c.2355T>C (p.Leu785=) rs3768066
NM_000081.3(LYST):c.2754G>A (p.Glu918=)
NM_000081.3(LYST):c.281C>T (p.Thr94Ile) rs777389303
NM_000081.3(LYST):c.3050G>A (p.Ser1017Asn) rs10465613
NM_000081.3(LYST):c.3324C>T (p.Ala1108=)
NM_000081.3(LYST):c.3507C>T (p.Leu1169=)
NM_000081.3(LYST):c.3898A>G (p.Ile1300Val)
NM_000081.3(LYST):c.3989A>C (p.Asp1330Ala) rs74641549
NM_000081.3(LYST):c.4377G>A (p.Pro1459=)
NM_000081.3(LYST):c.4392C>T (p.Asn1464=) rs11583387
NM_000081.3(LYST):c.4416T>C (p.Gly1472=)
NM_000081.3(LYST):c.4566A>C (p.Ala1522=)
NM_000081.3(LYST):c.4637C>T (p.Ala1546Val)
NM_000081.3(LYST):c.5518T>G (p.Ser1840Ala) rs115330112
NM_000081.3(LYST):c.574T>G (p.Leu192Val) rs7524261
NM_000081.3(LYST):c.5847G>C (p.Gln1949His) rs6665568
NM_000081.3(LYST):c.5883A>G (p.Gln1961=)
NM_000081.3(LYST):c.5922+10A>G
NM_000081.3(LYST):c.597C>G (p.Asp199Glu)
NM_000081.3(LYST):c.6264C>T (p.Ser2088=)
NM_000081.3(LYST):c.6279A>G (p.Pro2093=)
NM_000081.3(LYST):c.6455G>A (p.Ser2152Asn)
NM_000081.3(LYST):c.6482A>C (p.Glu2161Ala) rs147756847
NM_000081.3(LYST):c.6630A>G (p.Glu2210=) rs34466404
NM_000081.3(LYST):c.6632C>G (p.Pro2211Arg)
NM_000081.3(LYST):c.6710A>C (p.Gln2237Pro) rs138443479
NM_000081.3(LYST):c.6900G>A (p.Leu2300=) rs10926586
NM_000081.3(LYST):c.7137A>C (p.Leu2379=) rs61738992
NM_000081.3(LYST):c.7368T>C (p.Asn2456=) rs199631995
NM_000081.3(LYST):c.7506A>G (p.Gln2502=) rs140434436
NM_000081.3(LYST):c.777T>C (p.His259=)
NM_000081.3(LYST):c.7793T>A (p.Phe2598Tyr) rs34642241
NM_000081.3(LYST):c.7806A>G (p.Gln2602=)
NM_000081.3(LYST):c.7857T>C (p.His2619=) rs34160788
NM_000081.3(LYST):c.7870C>T (p.Arg2624Trp) rs150306354
NM_000081.3(LYST):c.7920G>A (p.Ala2640=)
NM_000081.3(LYST):c.8411G>A (p.Gly2804Asp) rs35333195
NM_000081.3(LYST):c.8487C>T (p.Ile2829=)
NM_000081.3(LYST):c.8497G>A (p.Ala2833Thr)
NM_000081.3(LYST):c.8607A>G (p.Gln2869=)
NM_000081.3(LYST):c.8624G>A (p.Arg2875His)
NM_000081.3(LYST):c.8913T>G (p.Asn2971Lys)
NM_000081.3(LYST):c.957G>A (p.Pro319=)
NM_001301365.1(LYST):c.11268-5del rs36014994
NM_001301365.1(LYST):c.11268-6_11268-5del
NM_001301365.1(LYST):c.2363+10dup
NM_001301365.1(LYST):c.6122-13del rs201404906

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